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| A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome) J Muenzer, JE Wraith, M Beck, R Giugliani, P Harmatz, CM Eng, A Vellodi, ... Genetics in medicine 8 (8), 465-473, 2006 | 710 | 2006 |
| Statins for children with familial hypercholesterolemia A Vuorio, J Kuoppala, PT Kovanen, SE Humphries, S Tonstad, ... Cochrane Database of Systematic Reviews, 2017 | 422 | 2017 |
| Statins for children with familial hypercholesterolemia A Vuorio, J Kuoppala, PT Kovanen, SE Humphries, S Tonstad, ... Cochrane Database of Systematic Reviews, 2017 | 422 | 2017 |
| Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document M Biegstraaten, R Arngrímsson, F Barbey, L Boks, F Cecchi, PB Deegan, ... Orphanet journal of rare diseases 10, 1-10, 2015 | 355 | 2015 |
| Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey U Ramaswami, C Whybra, R Parini, G Pintos‐Morell, A Mehta, ... Acta paediatrica 95 (1), 86-92, 2006 | 329 | 2006 |
| Fabry disease: overall effects of agalsidase alfa treatment M Beck, R Ricci, U Widmer, F Dehout, AG De Lorenzo, C Kampmann, ... European journal of clinical investigation 34 (12), 838-844, 2004 | 299 | 2004 |
| The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents M Ries, U Ramaswami, R Parini, B Lindblad, C Whybra, I Willers, A Gal, ... European journal of pediatrics 162, 767-772, 2003 | 282 | 2003 |
| Fabry disease: a review of current management strategies A Mehta, M Beck, F Eyskens, C Feliciani, I Kantola, U Ramaswami, ... QJM: An International Journal of Medicine 103 (9), 641-659, 2010 | 280 | 2010 |
| Consensus clinical management guidelines for Niemann-Pick disease type C T Geberhiwot, A Moro, A Dardis, U Ramaswami, S Sirrs, MP Marfa, ... Orphanet journal of rare diseases 13, 1-19, 2018 | 264 | 2018 |
| Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome J Muenzer, M Beck, CM Eng, R Giugliani, P Harmatz, R Martin, ... Genetics in Medicine 13 (2), 95-101, 2011 | 248 | 2011 |
| Multidisciplinary management of Hunter syndrome J Muenzer, M Beck, CM Eng, ML Escolar, R Giugliani, NH Guffon, ... Pediatrics 124 (6), e1228-e1239, 2009 | 241 | 2009 |
| Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres A Vellodi, EP Young, A Cooper, JE Wraith, B Winchester, C Meaney, ... Archives of disease in childhood 76 (2), 92-99, 1997 | 238 | 1997 |
| Fabry disease and the skin: data from FOS, the Fabry outcome survey CH Orteu, T Jansen, O Lidove, R Jaussaud, DA Hughes, G Pintos‐Morell, ... British Journal of Dermatology 157 (2), 331-337, 2007 | 208 | 2007 |
| An activating mutation of AKT2 and human hypoglycemia K Hussain, B Challis, N Rocha, F Payne, M Minic, A Thompson, A Daly, ... Science 334 (6055), 474-474, 2011 | 194 | 2011 |
| Screening, diagnosis, and management of patients with Fabry disease: conclusions from a “Kidney Disease: Improving Global Outcomes”(KDIGO) Controversies Conference R Schiffmann, DA Hughes, GE Linthorst, A Ortiz, E Svarstad, DG Warnock, ... Kidney international 91 (2), 284-293, 2017 | 187 | 2017 |
| Mortality and cause of death in mucopolysaccharidosis type II—a historical review based on data from the Hunter Outcome Survey (HOS) SA Jones, Z Almássy, M Beck, K Burt, JT Clarke, R Giugliani, C Hendriksz, ... Journal of inherited metabolic disease 32, 534-543, 2009 | 171 | 2009 |
| Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis M Beck, D Hughes, C Kampmann, S Larroque, A Mehta, G Pintos-Morell, ... Molecular genetics and metabolism reports 3, 21-27, 2015 | 145 | 2015 |
| Glycogen storage disease type IX: high variability in clinical phenotype NJ Beauchamp, A Dalton, U Ramaswami, H Niinikoski, K Mention, ... Molecular genetics and metabolism 92 (1-2), 88-99, 2007 | 138 | 2007 |
| Enzyme replacement therapy with agalsidase alfa in children with Fabry disease U Ramaswami, S Wendt, G Pintos‐Morell, R Parini, C Whybra, ... Acta paediatrica 96 (1), 122-127, 2007 | 131 | 2007 |
